Mutagenetix > Incidental Mutation

Incidental Mutation 'R4696:Zfp467'

386453

Institutional Source

Beutler Lab

Gene Symbol

Zfp467

Ensembl Gene

ENSMUSG00000068551

Gene Name

zinc finger protein 467

Synonyms

EZI, MNCb-3350, 1190001I08Rik

MMRRC Submission

041946-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.170) question?

Stock #

R4696 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48404631-48422759 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 48416291 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000138291 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101443] [ENSMUST00000114556] [ENSMUST00000114558] [ENSMUST00000114559] [ENSMUST00000114560] [ENSMUST00000114561] [ENSMUST00000114563] [ENSMUST00000114566] [ENSMUST00000141449] [ENSMUST00000114564]

AlphaFold

Q8JZL0

Predicted Effect

probably benign
Transcript: ENSMUST00000101443

Predicted Effect

unknown
Transcript: ENSMUST00000114556
AA Change: V69A

Predicted Effect

unknown
Transcript: ENSMUST00000114558
AA Change: V88A

Predicted Effect

unknown
Transcript: ENSMUST00000114559
AA Change: V88A

Predicted Effect

silent
Transcript: ENSMUST00000114560

SMART Domains

Protein: ENSMUSP00000110207
Gene: ENSMUSG00000068551

Domain	Start	End	E-Value	Type
low complexity region	98	110	N/A	INTRINSIC
ZnF_C2H2	160	182	1.26e-2	SMART
ZnF_C2H2	188	210	1.67e-2	SMART
ZnF_C2H2	216	238	2.12e-4	SMART
ZnF_C2H2	244	266	5.9e-3	SMART
ZnF_C2H2	272	294	1.47e-3	SMART
ZnF_C2H2	300	322	1.82e-3	SMART
ZnF_C2H2	355	377	9.58e-3	SMART
ZnF_C2H2	430	452	7.26e-3	SMART
ZnF_C2H2	458	480	1.56e-2	SMART
ZnF_C2H2	486	508	1.18e-2	SMART
ZnF_C2H2	514	536	3.11e-2	SMART
ZnF_C2H2	542	564	2.43e-4	SMART
low complexity region	567	585	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000114561

SMART Domains

Protein: ENSMUSP00000110208
Gene: ENSMUSG00000068551

Domain	Start	End	E-Value	Type
low complexity region	98	110	N/A	INTRINSIC
ZnF_C2H2	160	182	1.26e-2	SMART
ZnF_C2H2	188	210	1.67e-2	SMART
ZnF_C2H2	216	238	2.12e-4	SMART
ZnF_C2H2	244	266	5.9e-3	SMART
ZnF_C2H2	272	294	1.47e-3	SMART
ZnF_C2H2	300	322	1.82e-3	SMART
ZnF_C2H2	355	377	9.58e-3	SMART
ZnF_C2H2	430	452	7.26e-3	SMART
ZnF_C2H2	458	480	1.56e-2	SMART
ZnF_C2H2	486	508	1.18e-2	SMART
ZnF_C2H2	514	536	3.11e-2	SMART
ZnF_C2H2	542	564	2.43e-4	SMART
low complexity region	567	585	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114563

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140198

Predicted Effect

probably benign
Transcript: ENSMUST00000114566

Predicted Effect

probably benign
Transcript: ENSMUST00000141449

Predicted Effect

probably benign
Transcript: ENSMUST00000114564

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

99% (74/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a zinc finger protein whose function has not yet been elucidated in humans. However, the mouse ortholog of this protein enhances adipocyte differentiation and suppresses osteoblast differentiation in bone marrow. The mouse protein also is a transcription factor for several genes and can help recruit histone deacetylase complexes. [provided by RefSeq, Aug 2016]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	T	C	11: 94,241,817 (GRCm39)	S1405G	probably benign	Het
Acaca	T	C	11: 84,171,261 (GRCm39)	V1165A	possibly damaging	Het
Acin1	C	A	14: 54,880,474 (GRCm39)		probably benign	Het
Akr1b8	G	A	6: 34,340,312 (GRCm39)	V159I	probably benign	Het
Alms1	T	C	6: 85,597,504 (GRCm39)	Y777H	probably damaging	Het
Cblc	C	A	7: 19,530,407 (GRCm39)	G101C	probably damaging	Het
Cdc42ep5	G	A	7: 4,154,614 (GRCm39)	P58L	possibly damaging	Het
Cic	A	G	7: 24,987,908 (GRCm39)	N1532S	probably benign	Het
Cipc	T	A	12: 86,999,714 (GRCm39)		probably benign	Het
Clca4b	T	C	3: 144,617,146 (GRCm39)	I835V	probably benign	Het
Cntrob	C	T	11: 69,211,714 (GRCm39)	G170D	probably damaging	Het
Col14a1	A	G	15: 55,235,998 (GRCm39)	Q304R	unknown	Het
Csmd3	T	C	15: 47,777,364 (GRCm39)	T1181A	probably benign	Het
Dchs1	A	G	7: 105,413,834 (GRCm39)	F994L	probably damaging	Het
Ddx42	C	A	11: 106,138,529 (GRCm39)	A776D	probably benign	Het
Disp2	G	T	2: 118,622,165 (GRCm39)	E966*	probably null	Het
Dmpk	A	T	7: 18,822,139 (GRCm39)	N366Y	probably damaging	Het
Dmrt1	A	G	19: 25,580,674 (GRCm39)	Y362C	possibly damaging	Het
Dock10	C	T	1: 80,493,330 (GRCm39)	G1880D	possibly damaging	Het
Dzip1l	A	G	9: 99,545,664 (GRCm39)	R638G	possibly damaging	Het
Dzip3	T	A	16: 48,746,332 (GRCm39)		probably benign	Het
Ear-ps2	G	A	14: 44,284,517 (GRCm39)		noncoding transcript	Het
Eno4	T	C	19: 58,934,068 (GRCm39)	S90P	probably damaging	Het
Epn2	C	G	11: 61,426,129 (GRCm39)	A283P	probably damaging	Het
Eya3	T	A	4: 132,397,543 (GRCm39)	Y67*	probably null	Het
Fat2	T	C	11: 55,175,841 (GRCm39)	N1624S	probably benign	Het
Fez1	T	A	9: 36,781,766 (GRCm39)		probably null	Het
Fgfr1	T	C	8: 26,053,504 (GRCm39)	S260P	probably damaging	Het
Glb1	A	G	9: 114,293,220 (GRCm39)	S532G	probably benign	Het
Gm15455	A	T	1: 33,876,874 (GRCm39)		noncoding transcript	Het
Grid2ip	A	G	5: 143,377,131 (GRCm39)		probably benign	Het
Guca2b	C	A	4: 119,513,996 (GRCm39)	G129V	probably damaging	Het
Hes3	T	C	4: 152,372,124 (GRCm39)	E65G	probably damaging	Het
Itgbl1	T	C	14: 124,204,120 (GRCm39)	C404R	probably damaging	Het
Kansl1	C	T	11: 104,247,593 (GRCm39)	V586I	possibly damaging	Het
Krt18	A	G	15: 101,940,293 (GRCm39)	D390G	probably benign	Het
Laptm5	T	C	4: 130,660,982 (GRCm39)		probably benign	Het
Lgals3bp	C	T	11: 118,288,977 (GRCm39)	E116K	probably benign	Het
Lrrc39	C	T	3: 116,363,769 (GRCm39)	S114F	probably damaging	Het
Mfap3	T	C	11: 57,419,117 (GRCm39)		probably null	Het
Nphp3	A	G	9: 103,899,931 (GRCm39)	H481R	probably benign	Het
Ntm	T	C	9: 29,090,501 (GRCm39)	T73A	possibly damaging	Het
Or5m13b	T	A	2: 85,749,215 (GRCm39)		probably null	Het
Or8g4	T	A	9: 39,662,024 (GRCm39)	M114K	probably damaging	Het
Pbk	G	A	14: 66,049,386 (GRCm39)	C21Y	probably benign	Het
Pglyrp1	A	G	7: 18,618,871 (GRCm39)	E74G	probably benign	Het
R3hdm1	G	T	1: 128,164,503 (GRCm39)		probably benign	Het
Rap1gds1	T	C	3: 138,633,375 (GRCm39)	T599A	probably damaging	Het
Rigi	A	G	4: 40,203,798 (GRCm39)		probably benign	Het
Rims1	A	T	1: 22,358,836 (GRCm39)	M1273K	probably damaging	Het
Sbf1	G	A	15: 89,187,315 (GRCm39)	R721*	probably null	Het
Slc17a1	T	C	13: 24,064,700 (GRCm39)	I388T	probably damaging	Het
Sprn	A	C	7: 139,733,469 (GRCm39)		probably benign	Het
Tango6	T	C	8: 107,426,863 (GRCm39)	V459A	possibly damaging	Het
Tert	C	T	13: 73,775,939 (GRCm39)	T230I	probably benign	Het
Thada	T	C	17: 84,733,614 (GRCm39)	D1011G	possibly damaging	Het
Tln2	C	T	9: 67,302,743 (GRCm39)	R76Q	probably damaging	Het
Trip11	A	T	12: 101,851,549 (GRCm39)	N838K	possibly damaging	Het
Ttn	A	G	2: 76,597,997 (GRCm39)	W19639R	probably damaging	Het
Ubr4	T	A	4: 139,135,983 (GRCm39)	S924T	probably benign	Het
Upb1	A	G	10: 75,250,861 (GRCm39)	E110G	probably benign	Het
Vegfa	C	T	17: 46,339,272 (GRCm39)		probably null	Het
Vmn1r231	T	C	17: 21,110,901 (GRCm39)	K5E	possibly damaging	Het
Vmn2r16	A	T	5: 109,487,168 (GRCm39)	I130F	probably benign	Het
Wscd2	T	A	5: 113,689,240 (GRCm39)	V82E	probably benign	Het
Zfp462	A	G	4: 55,008,612 (GRCm39)	T193A	probably benign	Het
Zfp619	T	C	7: 39,186,412 (GRCm39)	L814P	probably benign	Het

Other mutations in Zfp467

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0166:Zfp467	UTSW	6	48,415,615 (GRCm39)	missense	probably benign	0.00
R0234:Zfp467	UTSW	6	48,415,689 (GRCm39)	missense	probably damaging	1.00
R0234:Zfp467	UTSW	6	48,415,689 (GRCm39)	missense	probably damaging	1.00
R1509:Zfp467	UTSW	6	48,415,621 (GRCm39)	missense	possibly damaging	0.95
R1517:Zfp467	UTSW	6	48,415,170 (GRCm39)	missense	probably damaging	1.00
R1656:Zfp467	UTSW	6	48,416,013 (GRCm39)	missense	possibly damaging	0.87
R2131:Zfp467	UTSW	6	48,419,595 (GRCm39)	missense	probably damaging	0.98
R2912:Zfp467	UTSW	6	48,416,010 (GRCm39)	missense	possibly damaging	0.95
R4714:Zfp467	UTSW	6	48,404,751 (GRCm39)	missense	unknown
R4993:Zfp467	UTSW	6	48,415,963 (GRCm39)	missense	probably damaging	1.00
R7038:Zfp467	UTSW	6	48,415,072 (GRCm39)	missense	probably damaging	1.00
R7224:Zfp467	UTSW	6	48,421,903 (GRCm39)	critical splice donor site	probably null
R7855:Zfp467	UTSW	6	48,416,115 (GRCm39)	missense	probably damaging	0.99
R8073:Zfp467	UTSW	6	48,414,959 (GRCm39)	missense	probably damaging	0.99
R8093:Zfp467	UTSW	6	48,420,366 (GRCm39)	missense	possibly damaging	0.95
R8139:Zfp467	UTSW	6	48,416,268 (GRCm39)	missense	probably damaging	1.00
R8920:Zfp467	UTSW	6	48,415,414 (GRCm39)	missense	probably benign	0.06
R9418:Zfp467	UTSW	6	48,415,990 (GRCm39)	missense	probably damaging	1.00
R9608:Zfp467	UTSW	6	48,404,776 (GRCm39)	missense	unknown
R9656:Zfp467	UTSW	6	48,419,603 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- AGGAGCATATGAGCACGCTG -3'
(R):5'- TGAGTCTACTGGCAAATGGATGTAC -3'

Sequencing Primer
(F):5'- TGCAACCTCTGGTGGAGC -3'
(R):5'- CTACTGGCAAATGGATGTACCCATG -3'

Posted On

2016-06-03